ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2135dup (p.Gly713fs) (rs63751453)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076406 SCV000107435 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076406 SCV000592537 pathogenic Lynch syndrome 2012-11-12 criteria provided, single submitter clinical testing
Invitae RCV000706282 SCV000835322 pathogenic Hereditary nonpolyposis colon cancer 2018-03-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly713Argfs*4) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Lynch syndrome or colorectal cancer (PMID: 15713769, 19698169). This variant is also known as c.2135_2136insT, V712Xfs, and Val712ValfsX4 in the literature. ClinVar contains an entry for this variant (Variation ID: 90904). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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